Human genes for multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 1 [DOID:0080133]
A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.
Synonyms: multiple mitochondrial dysfunctions syndrome 1, DOID:0080133, NFU1 deficiency